Lochmüller Lab

This September 7th to 9th the University of Ottawa Éric Poulin Centre for Neuromuscular Disease (CNMD) hosted the 6th Ottawa International Conference on Neuromuscular Disease and Biology (Ottawa NMD 2023), with a program emphasizing recent breakthroughs in basic and translational research and clinical discoveries in neuromuscular disease.

Ottawa NMD 2023 was well-attended by Lochmüller Lab members, with many of our trainees and lab members presenting abstracts during the poster sessions.

Lochmüller Lab Abstracts at Ottawa NMD 2023

• GNE myopathy: a novel method for the estimation of disease prevalence using genomic databases (Alexa Derksen) 
• Myoinflammation disrupts mitochondrial dynamics and function in a human myositis model (Dr Stefanie Meyer) 
• Delayed diagnosis of the common single mtDNA deletion due to an atypical multisystem presentation (Dr Stefanie Meyer) 
• Developing an optogenetic reference model for congenital myasthenic syndromes (Jarred Lau) 
• Understanding the Role of GFPT1 and O-GlcNAcylation in Congenital Myasthenic Syndromes (Stephen Holland) 
• Investigating beta-2 adrenergic agonist treatment alternatives for congenital myasthenic syndromes (Kelly Ho) 
• Unraveling the pathophysiology of Bethlem Myopathy using a unique zebrafish model for the disease (Dr Romane Idoux) 
• Investigating muscle specific kinase agonist antibody treatment for Agrn Congenital Myasthenia Syndromes (Dr Sally Spendiff) 
• Exercise impact on insulin resistance in Myotonic Dystrophy Type 1 (Ofosu Adjei-Afriyie) 
• Integration of a best practice advisory for myotonic dystrophy into an electronic healthcare record system – The Ottawa Hospital experience (Sydney Zakutney) 
• Is sensory neuropathy as a comorbid condition in Pompe disease? (Dr Marzieh Babaee with Dr Hanns Lochmüller) 
• A novel recurrent intronic variant in Desmin (DES) causes a milder limb-girdle congenital myasthenic syndrome (LG-CMS) phenotype due to leaky splicing with intron retention (Dr Kiran Polavarapu) 
• Treatabolome DB: linking treatments for rare diseases to genes and variants (Dr Rachel Thompson) 
• The Neuromuscular Disease Network for Canada (NMD4C): An interdisciplinary national collaboration to tackle unmet needs for NMD research and care (Dr Erin Beattie) 
• Compliance to Duchenne Muscular Dystrophy Care Considerations in Canada (Dr Homira Osman with Dr Hanns Lochmüller) 
• Expert Patient Capacity Building in Neuromuscular Disease Research (Dr Kathryn Selby with Dr Hanns Lochmüller) 

All of the abstracts are available to read here.

Lochmüller Lab members gather for a group photo at the Ottawa NMD poster session.